Early development in Rett syndrome – the benefits and difficulties of a birth cohort approach

ABSTRACT

Purposes: Typically, early (pre-diagnostic) development in individuals later diagnosed with Rett syndrome (RTT) has been investigated retrospectively using parent reports, medical records and analysis of home videos. In recent years, prospective research designs have been increasingly applied to the investigation of early development in individuals with late phenotypical onset disorders, for example, autism spectrum disorder. Methods: In this study, data collected by the Danish National Birth Cohort lent itself to prospective exploration of the early development of RTT, in particular early motor-, speech-language, and socio-communicative behaviors, mood, and sleep. Results and Conclusions: Despite limitations, this quasi prospective methodology proved promising. In order to add substantially to the body of knowledge, however, specific questions relating to peculiarites in early development could usefully be added to future cohort studies. As this involves considerable work, it may be more realistic to consider a set of indicators which point to a number of developmental disorders rather than to one.

KEYWORDS:

• Birth cohort
• early development
• longitudinal study
• parent interviews
• prodrome
• Rett syndrome

Acknowledgments

The Danish Society for Rett Syndrome supported the idea of this study. We would like to thank Florian B. Pokorny, Katrin D. Bartl-Pokorny, and Iris Tomantschger for their input on this manuscript.

Funding

The Danish National Research Foundation established the Danish Epidemiology Science Centre that initiated and created the DNBC. The DNBC received a major grant from this Foundation. Additional support for the DNBC is provided by the Pharmacy Foundation, the Egmont Foundation, the March of Dimes Birth Defects Foundation, the Augustinus Foundation, and the Health Insurance Foundation. PBM was supported by FWF 19581, 25241 and the Franz Lanyar Foundation. Sanne Lemcke was supported by the Tryg Foundation.

Declaration of interest

The authors report no declarations of interest.

Additional information

Funding

The Danish National Research Foundation established the Danish Epidemiology Science Centre that initiated and created the DNBC. The DNBC received a major grant from this Foundation. Additional support for the DNBC is provided by the Pharmacy Foundation, the Egmont Foundation, the March of Dimes Birth Defects Foundation, the Augustinus Foundation, and the Health Insurance Foundation. PBM was supported by FWF 19581, 25241 and the Franz Lanyar Foundation. Sanne Lemcke was supported by the Tryg Foundation.